fig2

Figure 2. Sanger sequencing validation of ATP7B variants in the family. (A) ATP7B c.2333G>T (p.Arg778Leu) was heterozygous in the proband (I-2) but was not detected in her son (II-1), daughter (II-2) or grandson (III-1); (B) ATP7B c.2621C>T (p.Ala874Val) was heterozygous in the proband, son, daughter, and grandson; (C) ATP7B c.2975C>T (p.Pro992Leu) was heterozygous in the son and daughter. Red arrows indicate the variant sites. ATPase: Adenosine triphosphatase; ATP7B: ATPase copper transporting beta.